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P78367 (NKX32_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein Nkx-3.2
Alternative name(s):
Bagpipe homeobox protein homolog 1
Homeobox protein NK-3 homolog B
Gene names
Name:NKX3-2
Synonyms:BAPX1, NKX3B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length333 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Transcriptional repressor that acts as a negative regulator of chondrocyte maturation. PLays a role in distal stomach development; required for proper antral-pyloric morphogenesis and development of antral-type epithelium. In concert with GSC, defines the structural components of the middle ear; required for tympanic ring and gonium development and in the regulation of the width of the malleus By similarity.

Subcellular location

Nucleus Probable.

Tissue specificity

Expressed at highest levels in cartilage, bone (osteosarcoma) and gut (small intestine and colon), whereas moderate expression is seen in trachea and brain. Expressed in visceral mesoderm and embryonic skeleton. Ref.5

Involvement in disease

Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) [MIM:613330]: A skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk, relatively long limbs that may show flexion contractures of the distal joints, delayed and impaired ossification of the vertebral bodies, the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones, and numerous pseudoepiphyses of the short tubular bones in hands and feet.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Belongs to the NK-3 homeobox family.

Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   DiseaseDwarfism
   DomainHomeobox
   LigandDNA-binding
   Molecular functionRepressor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processdetermination of left/right symmetry

Inferred from electronic annotation. Source: Ensembl

embryonic skeletal system development

Inferred from electronic annotation. Source: Ensembl

intestinal epithelial cell development

Inferred from electronic annotation. Source: Ensembl

middle ear morphogenesis

Inferred from electronic annotation. Source: Ensembl

negative regulation of apoptotic process

Inferred from electronic annotation. Source: Ensembl

negative regulation of chondrocyte differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

organ formation

Inferred from electronic annotation. Source: Ensembl

pancreas development

Inferred from electronic annotation. Source: Ensembl

skeletal system development

Traceable author statement Ref.2. Source: ProtInc

skeletal system morphogenesis

Inferred from electronic annotation. Source: Ensembl

spleen development

Inferred from electronic annotation. Source: Ensembl

transcription from RNA polymerase II promoter

Traceable author statement Ref.2. Source: ProtInc

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionsequence-specific DNA binding

Inferred from electronic annotation. Source: InterPro

sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 333333Homeobox protein Nkx-3.2
PRO_0000048947

Regions

DNA binding206 – 26560Homeobox
Compositional bias180 – 1889Poly-Gly
Compositional bias194 – 1985Poly-Glu
Compositional bias327 – 3304Poly-Ala

Sequences

Sequence LengthMass (Da)Tools
P78367 [UniParc].

Last modified July 15, 1999. Version 2.
Checksum: 8C406E188D27780B

FASTA33334,814
        10         20         30         40         50         60 
MAVRGANTLT SFSIQAILNK KEERGGLAAP EGRPAPGGTA ASVAAAPAVC CWRLFGERDA 

        70         80         90        100        110        120 
GALGGAEDSL LASPAGTRTA AGRTAESPEG WDSDSALSEE NESRRRCADA RGASGAGLAG 

       130        140        150        160        170        180 
GSLSLGQPVC ELAASKDLEE EAAGRSDSEM SASVSGDRSP RTEDDGVGPR GAHVSALCSG 

       190        200        210        220        230        240 
AGGGGGSGPA GVAEEEEEPA APKPRKKRSR AAFSHAQVFE LERRFNHQRY LSGPERADLA 

       250        260        270        280        290        300 
ASLKLTETQV KIWFQNRRYK TKRRQMAADL LASAPAAKKV AVKVLVRDDQ RQYLPGEVLR 

       310        320        330 
PPSLLPLQPS YYYPYYCLPG WALSTCAAAA GTQ 

« Hide

References

« Hide 'large scale' references
[1]"Molecular cloning, chromosomal mapping and developmental expression of BAPX1, a novel human homeobox-containing gene homologous to Drosophila bagpipe."
Tribioli C., Lufkin T.
Gene 203:225-233(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"Sequence and chromosomal assignment of human BAPX1, a bagpipe-related gene, to 4p16.1: a candidate gene for skeletal dysplasia."
Yoshiura K., Murray J.C.
Genomics 45:425-428(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]"Bapx1: an evolutionary conserved homologue of the Drosophila bagpipe homeobox gene is expressed in splanchnic mesoderm and the embryonic skeleton."
Tribioli C., Frasch M., Lufkin T.
Mech. Dev. 65:145-162(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 206-265.
[5]"Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia."
Hellemans J., Simon M., Dheedene A., Alanay Y., Mihci E., Rifai L., Sefiani A., van Bever Y., Meradji M., Superti-Furga A., Mortier G.
Am. J. Hum. Genet. 85:916-922(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SMMD, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF005260 Genomic DNA. Translation: AAC39536.1.
AF009801 mRNA. Translation: AAB82783.1.
AF009802 Genomic DNA. Translation: AAB82784.1.
BC111966 mRNA. Translation: AAI11967.1.
U89845 Genomic DNA. Translation: AAB49696.1.
CCDSCCDS3410.1.
RefSeqNP_001180.1. NM_001189.3.
UniGeneHs.590927.

3D structure databases

ProteinModelPortalP78367.
SMRP78367. Positions 187-270.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107055. 6 interactions.
STRING9606.ENSP00000371875.

PTM databases

PhosphoSiteP78367.

Polymorphism databases

DMDM6016210.

Proteomic databases

PaxDbP78367.
PRIDEP78367.

Protocols and materials databases

DNASU579.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000382438; ENSP00000371875; ENSG00000109705.
GeneID579.
KEGGhsa:579.
UCSCuc003gmx.2. human.

Organism-specific databases

CTD579.
GeneCardsGC04M013542.
HGNCHGNC:951. NKX3-2.
HPAHPA027564.
MIM602183. gene.
613330. phenotype.
neXtProtNX_P78367.
Orphanet228387. Spondylo-megaepiphyseal-metaphyseal dysplasia.
PharmGKBPA162397617.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG279137.
HOGENOMHOG000231923.
HOVERGENHBG006689.
InParanoidP78367.
KOK09995.
OMAESPGGWD.
OrthoDBEOG7QZG9Z.
PhylomeDBP78367.
TreeFamTF351204.

Gene expression databases

BgeeP78367.
CleanExHS_NKX3-2.
GenevestigatorP78367.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSPR00024. HOMEOBOX.
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi579.
NextBio2363.
PROP78367.
SOURCESearch...

Entry information

Entry nameNKX32_HUMAN
AccessionPrimary (citable) accession number: P78367
Secondary accession number(s): Q2M2I7
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 15, 1999
Last modified: July 9, 2014
This is version 115 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM